Details for KCNA5:c.1428del, p.Thr477ProfsTer2

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
51547405045574
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_corrected
GENE KCNA5
REFERENCE ALLELE TC
ALTERNATE ALLELE T
TRANSCRIPT NM_002234.4
CDNA CHANGE c.1428del
PROTEIN CHANGE p.Thr477ProfsTer2
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.569757Disease causing
DBSNP ID NA
1 combination linked to KCNA5:c.1428del, p.Thr477ProfsTer2 OLI238
2 diseases linked to KCNA5:c.1428del, p.Thr477ProfsTer2 Pulmonary arterial hypertension; Heritable pulmonary arterial hypertension
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